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<s> [INST] What are the genetic changes related to Nijmegen breakage syndrome ?[/INST] Mutations in the NBN gene cause Nijmegen breakage syndrome. The NBN gene provides instructions for making a protein called nibrin. This protein is involved in several critical cellular functions, including the repair of damaged DNA. ... |
<s> [INST] Is Nijmegen breakage syndrome inherited ?[/INST] This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do no... |
<s> [INST] What are the treatments for Nijmegen breakage syndrome ?[/INST] These resources address the diagnosis or management of Nijmegen breakage syndrome: - Boston Children's Hospital: Pneumonia in Children - Boston Children's Hospital: Sinusitis in Children - Cleveland Clinic: Bronchitis - Gene Review: Gene Rev... |
<s> [INST] What is (are) congenital stromal corneal dystrophy ?[/INST] Congenital stromal corneal dystrophy is an inherited eye disorder. This condition primarily affects the cornea, which is the clear outer covering of the eye. In people with this condition, the cornea appears cloudy and may have an irregular surface.... |
<s> [INST] How many people are affected by congenital stromal corneal dystrophy ?[/INST] Congenital stromal corneal dystrophy is probably very rare; only a few affected families have been reported in the medical literature.</s> |
<s> [INST] What are the genetic changes related to congenital stromal corneal dystrophy ?[/INST] Congenital stromal corneal dystrophy is caused by mutations in the DCN gene. This gene provides instructions for making a protein called decorin, which is involved in the organization of collagens. Collagens are proteins th... |
<s> [INST] Is congenital stromal corneal dystrophy inherited ?[/INST] This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.</s> |
<s> [INST] What are the treatments for congenital stromal corneal dystrophy ?[/INST] These resources address the diagnosis or management of congenital stromal corneal dystrophy: - Gene Review: Gene Review: Congenital Stromal Corneal Dystrophy - Genetic Testing Registry: Congenital Stromal Corneal Dystrophy - Medline... |
<s> [INST] What is (are) Beare-Stevenson cutis gyrata syndrome ?[/INST] Beare-Stevenson cutis gyrata syndrome is a genetic disorder characterized by skin abnormalities and the premature fusion of certain bones of the skull (craniosynostosis). This early fusion prevents the skull from growing normally and affects the sh... |
<s> [INST] How many people are affected by Beare-Stevenson cutis gyrata syndrome ?[/INST] Beare-Stevenson cutis gyrata syndrome is a rare genetic disorder; its incidence is unknown. Fewer than 20 people with this condition have been reported worldwide.</s> |
<s> [INST] What are the genetic changes related to Beare-Stevenson cutis gyrata syndrome ?[/INST] Mutations in the FGFR2 gene cause Beare-Stevenson cutis gyrata syndrome. This gene produces a protein called fibroblast growth factor receptor 2, which plays an important role in signaling a cell to respond to its environm... |
<s> [INST] Is Beare-Stevenson cutis gyrata syndrome inherited ?[/INST] This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. All reported cases have resulted from new mutations in the gene, and occurred in people with no ... |
<s> [INST] What are the treatments for Beare-Stevenson cutis gyrata syndrome ?[/INST] These resources address the diagnosis or management of Beare-Stevenson cutis gyrata syndrome: - Gene Review: Gene Review: FGFR-Related Craniosynostosis Syndromes - Genetic Testing Registry: Cutis Gyrata syndrome of Beare and Stevens... |
<s> [INST] What is (are) porphyria ?[/INST] Porphyria is a group of disorders caused by abnormalities in the chemical steps that lead to heme production. Heme is a vital molecule for all of the body's organs, although it is most abundant in the blood, bone marrow, and liver. Heme is a component of several iron-containi... |
<s> [INST] How many people are affected by porphyria ?[/INST] The exact prevalence of porphyria is unknown, but it probably ranges from 1 in 500 to 1 in 50,000 people worldwide. Overall, porphyria cutanea tarda is the most common type of porphyria. For some forms of porphyria, the prevalence is unknown because many peo... |
<s> [INST] What are the genetic changes related to porphyria ?[/INST] Each form of porphyria results from mutations in one of these genes: ALAD, ALAS2, CPOX, FECH, HMBS, PPOX, UROD, or UROS. The genes related to porphyria provide instructions for making the enzymes needed to produce heme. Mutations in most of these ge... |
<s> [INST] Is porphyria inherited ?[/INST] Some types of porphyria are inherited in an autosomal dominant pattern, which means one copy of the gene in each cell is mutated. This single mutation is sufficient to reduce the activity of an enzyme needed for heme production, which increases the risk of developing signs and... |
<s> [INST] What are the treatments for porphyria ?[/INST] These resources address the diagnosis or management of porphyria: - Gene Review: Gene Review: Acute Intermittent Porphyria - Gene Review: Gene Review: Congenital Erythropoietic Porphyria - Gene Review: Gene Review: Erythropoietic Protoporphyria, Autosomal Rec... |
<s> [INST] What is (are) isodicentric chromosome 15 syndrome ?[/INST] Isodicentric chromosome 15 syndrome is a developmental disorder with a broad spectrum of features. The signs and symptoms vary among affected individuals. Poor muscle tone is commonly seen in individuals with isodicentric chromosome 15 syndrome and ... |
<s> [INST] How many people are affected by isodicentric chromosome 15 syndrome ?[/INST] Isodicentric chromosome 15 syndrome occurs in about 1 in 30,000 newborns.</s> |
<s> [INST] What are the genetic changes related to isodicentric chromosome 15 syndrome ?[/INST] Isodicentric chromosome 15 syndrome results from the presence of an abnormal extra chromosome, called an isodicentric chromosome 15, in each cell. An isodicentric chromosome contains mirror-image segments of genetic material... |
<s> [INST] Is isodicentric chromosome 15 syndrome inherited ?[/INST] Isodicentric chromosome 15 syndrome is usually not inherited. The chromosomal change that causes the disorder typically occurs as a random event during the formation of reproductive cells (eggs or sperm) in a parent of the affected individual. Most af... |
<s> [INST] What are the treatments for isodicentric chromosome 15 syndrome ?[/INST] These resources address the diagnosis or management of isodicentric chromosome 15 syndrome: - Autism Speaks: How is Autism Treated? These resources from MedlinePlus offer information about the diagnosis and management of various heal... |
<s> [INST] What is (are) polymicrogyria ?[/INST] Polymicrogyria is a condition characterized by abnormal development of the brain before birth. The surface of the brain normally has many ridges or folds, called gyri. In people with polymicrogyria, the brain develops too many folds, and the folds are unusually small. Th... |
<s> [INST] How many people are affected by polymicrogyria ?[/INST] The prevalence of isolated polymicrogyria is unknown. Researchers believe that it may be relatively common overall, although the individual forms of the disorder (such as bilateral generalized polymicrogyria) are probably rare.</s> |
<s> [INST] What are the genetic changes related to polymicrogyria ?[/INST] In most people with polymicrogyria, the cause of the condition is unknown. However, researchers have identified several environmental and genetic factors that can be responsible for the disorder. Environmental causes of polymicrogyria include ce... |
<s> [INST] Is polymicrogyria inherited ?[/INST] Isolated polymicrogyria can have different inheritance patterns. Several forms of the condition, including bilateral frontoparietal polymicrogyria (which is associated with mutations in the ADGRG1 gene), have an autosomal recessive pattern of inheritance. In autosomal rec... |
<s> [INST] What are the treatments for polymicrogyria ?[/INST] These resources address the diagnosis or management of polymicrogyria: - Gene Review: Gene Review: Polymicrogyria Overview - Genetic Testing Registry: Congenital bilateral perisylvian syndrome - Genetic Testing Registry: Polymicrogyria, asymmetric - Gen... |
<s> [INST] What is (are) Pompe disease ?[/INST] Pompe disease is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially muscles, impairs their ability to function normally. Researchers have described thr... |
<s> [INST] How many people are affected by Pompe disease ?[/INST] Pompe disease affects about 1 in 40,000 people in the United States. The incidence of this disorder varies among different ethnic groups.</s> |
<s> [INST] What are the genetic changes related to Pompe disease ?[/INST] Mutations in the GAA gene cause Pompe disease. The GAA gene provides instructions for producing an enzyme called acid alpha-glucosidase (also known as acid maltase). This enzyme is active in lysosomes, which are structures that serve as recycling... |
<s> [INST] Is Pompe disease inherited ?[/INST] This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs ... |
<s> [INST] What are the treatments for Pompe disease ?[/INST] These resources address the diagnosis or management of Pompe disease: - Baby's First Test - Gene Review: Gene Review: Glycogen Storage Disease Type II (Pompe Disease) - Genetic Testing Registry: Glycogen storage disease type II, infantile - Genetic Testi... |
<s> [INST] What is (are) hereditary xanthinuria ?[/INST] Hereditary xanthinuria is a condition that most often affects the kidneys. It is characterized by high levels of a compound called xanthine and very low levels of another compound called uric acid in the blood and urine. The excess xanthine can accumulate in the ... |
<s> [INST] How many people are affected by hereditary xanthinuria ?[/INST] The combined incidence of hereditary xanthinuria types I and II is estimated to be about 1 in 69,000 people worldwide. However, researchers suspect that the true incidence may be higher because some affected individuals have no symptoms and are ... |
<s> [INST] What are the genetic changes related to hereditary xanthinuria ?[/INST] Hereditary xanthinuria type I is caused by mutations in the XDH gene. This gene provides instructions for making an enzyme called xanthine dehydrogenase. This enzyme is involved in the normal breakdown of purines, which are building bloc... |
<s> [INST] Is hereditary xanthinuria inherited ?[/INST] This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not sh... |
<s> [INST] What are the treatments for hereditary xanthinuria ?[/INST] These resources address the diagnosis or management of hereditary xanthinuria: - Genetic Testing Registry: Deficiency of xanthine oxidase - Genetic Testing Registry: Xanthinuria type 2 - MedlinePlus Encyclopedia: Uric Acid - Blood These resourc... |
<s> [INST] What is (are) hyperkalemic periodic paralysis ?[/INST] Hyperkalemic periodic paralysis is a condition that causes episodes of extreme muscle weakness or paralysis, usually beginning in infancy or early childhood. Most often, these episodes involve a temporary inability to move muscles in the arms and legs. E... |
<s> [INST] How many people are affected by hyperkalemic periodic paralysis ?[/INST] Hyperkalemic periodic paralysis affects an estimated 1 in 200,000 people.</s> |
<s> [INST] What are the genetic changes related to hyperkalemic periodic paralysis ?[/INST] Mutations in the SCN4A gene can cause hyperkalemic periodic paralysis. The SCN4A gene provides instructions for making a protein that plays an essential role in muscles used for movement (skeletal muscles). For the body to move ... |
<s> [INST] Is hyperkalemic periodic paralysis inherited ?[/INST] This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.</s> |
<s> [INST] What are the treatments for hyperkalemic periodic paralysis ?[/INST] These resources address the diagnosis or management of hyperkalemic periodic paralysis: - Gene Review: Gene Review: Hyperkalemic Periodic Paralysis - Genetic Testing Registry: Familial hyperkalemic periodic paralysis - Genetic Testing Re... |
<s> [INST] What is (are) arginase deficiency ?[/INST] Arginase deficiency is an inherited disorder that causes the amino acid arginine (a building block of proteins) and ammonia to accumulate gradually in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if levels become too high. ... |
<s> [INST] How many people are affected by arginase deficiency ?[/INST] Arginase deficiency is a very rare disorder; it has been estimated to occur once in every 300,000 to 1,000,000 individuals.</s> |
<s> [INST] What are the genetic changes related to arginase deficiency ?[/INST] Mutations in the ARG1 gene cause arginase deficiency. Arginase deficiency belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of reactions that occurs in liver cells. This cycle processes excess... |
<s> [INST] Is arginase deficiency inherited ?[/INST] This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show ... |
<s> [INST] What are the treatments for arginase deficiency ?[/INST] These resources address the diagnosis or management of arginase deficiency: - Baby's First Test - Gene Review: Gene Review: Arginase Deficiency - Gene Review: Gene Review: Urea Cycle Disorders Overview - Genetic Testing Registry: Arginase deficienc... |
<s> [INST] What is (are) neuroblastoma ?[/INST] Neuroblastoma is a type of cancer that most often affects children. Neuroblastoma occurs when immature nerve cells called neuroblasts become abnormal and multiply uncontrollably to form a tumor. Most commonly, the tumor originates in the nerve tissue of the adrenal gland ... |
<s> [INST] How many people are affected by neuroblastoma ?[/INST] Neuroblastoma is the most common cancer in infants younger than 1 year. It occurs in 1 in 100,000 children and is diagnosed in about 650 children each year in the United States.</s> |
<s> [INST] What are the genetic changes related to neuroblastoma ?[/INST] Neuroblastoma and other cancers occur when a buildup of genetic mutations in critical genesthose that control cell growth and division (proliferation) or maturation (differentiation)allow cells to grow and divide uncontrollably to form a tumor. I... |
<s> [INST] Is neuroblastoma inherited ?[/INST] Most people with neuroblastoma have sporadic neuroblastoma, meaning the condition arose from somatic mutations in the body's cells and was not inherited. About 1 to 2 percent of affected individuals have familial neuroblastoma. This form of the condition has an autosomal ... |
<s> [INST] What are the treatments for neuroblastoma ?[/INST] These resources address the diagnosis or management of neuroblastoma: - American Cancer Society: Diagnosis of Neuroblastoma - Gene Review: Gene Review: ALK-Related Neuroblastic Tumor Susceptibility - Genetic Testing Registry: Neuroblastoma - Genetic Test... |
<s> [INST] What is (are) Birt-Hogg-Dub syndrome ?[/INST] Birt-Hogg-Dub syndrome is a rare disorder that affects the skin and lungs and increases the risk of certain types of tumors. Its signs and symptoms vary among affected individuals. Birt-Hogg-Dub syndrome is characterized by multiple noncancerous (benign) skin tu... |
<s> [INST] How many people are affected by Birt-Hogg-Dub syndrome ?[/INST] Birt-Hogg-Dub syndrome is rare; its exact incidence is unknown. This condition has been reported in more than 400 families.</s> |
<s> [INST] What are the genetic changes related to Birt-Hogg-Dub syndrome ?[/INST] Mutations in the FLCN gene cause Birt-Hogg-Dub syndrome. This gene provides instructions for making a protein called folliculin. The normal function of this protein is unknown, but researchers believe that it may act as a tumor suppresso... |
<s> [INST] Is Birt-Hogg-Dub syndrome inherited ?[/INST] This condition is inherited in an autosomal dominant pattern, which means one copy of the altered FLCN gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. Less commonly, the condi... |
<s> [INST] What are the treatments for Birt-Hogg-Dub syndrome ?[/INST] These resources address the diagnosis or management of Birt-Hogg-Dub syndrome: - BHD Foundation: Practical Considerations - Gene Review: Gene Review: Birt-Hogg-Dube Syndrome - Genetic Testing Registry: Multiple fibrofolliculomas - MedlinePlus En... |
<s> [INST] What is (are) N-acetylglutamate synthase deficiency ?[/INST] N-acetylglutamate synthase deficiency is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especia... |
<s> [INST] How many people are affected by N-acetylglutamate synthase deficiency ?[/INST] N-acetylglutamate synthase deficiency is a very rare disorder. Only a few cases have been reported worldwide, and the overall incidence is unknown.</s> |
<s> [INST] What are the genetic changes related to N-acetylglutamate synthase deficiency ?[/INST] Mutations in the NAGS gene cause N-acetylglutamate synthase deficiency. N-acetylglutamate synthase deficiency belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of reactions t... |
<s> [INST] Is N-acetylglutamate synthase deficiency inherited ?[/INST] This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typi... |
<s> [INST] What are the treatments for N-acetylglutamate synthase deficiency ?[/INST] These resources address the diagnosis or management of N-acetylglutamate synthase deficiency: - Gene Review: Gene Review: Urea Cycle Disorders Overview - Genetic Testing Registry: Hyperammonemia, type III - MedlinePlus Encyclopedia... |
<s> [INST] What is (are) Winchester syndrome ?[/INST] Winchester syndrome is a rare inherited disease characterized by a loss of bone tissue (osteolysis), particularly in the hands and feet. Winchester syndrome used to be considered part of a related condition now called multicentric osteolysis, nodulosis, and arthropa... |
<s> [INST] How many people are affected by Winchester syndrome ?[/INST] Winchester syndrome is a rare condition whose prevalence is unknown. It has been reported in only a few individuals worldwide.</s> |
<s> [INST] What are the genetic changes related to Winchester syndrome ?[/INST] Winchester syndrome is caused by mutations in the MMP14 gene (also known as MT1-MMP). This gene provides instructions for making a protein called matrix metallopeptidase 14, which is found on the surface of cells. Matrix metallopeptidase 14... |
<s> [INST] Is Winchester syndrome inherited ?[/INST] This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show ... |
<s> [INST] What are the treatments for Winchester syndrome ?[/INST] These resources address the diagnosis or management of Winchester syndrome: - Genetic Testing Registry: Winchester syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagno... |
<s> [INST] What is (are) Wolman disease ?[/INST] Wolman disease is a rare inherited condition involving the breakdown and use of fats and cholesterol in the body (lipid metabolism). In affected individuals, harmful amounts of lipids accumulate in the spleen, liver, bone marrow, small intestine, small hormone-producing ... |
<s> [INST] How many people are affected by Wolman disease ?[/INST] Wolman disease is estimated to occur in 1 in 350,000 newborns.</s> |
<s> [INST] What are the genetic changes related to Wolman disease ?[/INST] Mutations in the LIPA gene cause Wolman disease. The LIPA gene provides instructions for producing an enzyme called lysosomal acid lipase. This enzyme is found in the lysosomes (compartments that digest and recycle materials in the cell), where... |
<s> [INST] Is Wolman disease inherited ?[/INST] This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs... |
<s> [INST] What are the treatments for Wolman disease ?[/INST] These resources address the diagnosis or management of Wolman disease: - Genetic Testing Registry: Lysosomal acid lipase deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Dia... |
<s> [INST] What is (are) purine nucleoside phosphorylase deficiency ?[/INST] Purine nucleoside phosphorylase deficiency is one of several disorders that damage the immune system and cause severe combined immunodeficiency (SCID). People with SCID lack virtually all immune protection from foreign invaders such as bacteri... |
<s> [INST] How many people are affected by purine nucleoside phosphorylase deficiency ?[/INST] Purine nucleoside phosphorylase deficiency is rare; only about 70 affected individuals have been identified. This disorder accounts for approximately 4 percent of all SCID cases.</s> |
<s> [INST] What are the genetic changes related to purine nucleoside phosphorylase deficiency ?[/INST] Purine nucleoside phosphorylase deficiency is caused by mutations in the PNP gene. The PNP gene provides instructions for making an enzyme called purine nucleoside phosphorylase. This enzyme is found throughout the bo... |
<s> [INST] Is purine nucleoside phosphorylase deficiency inherited ?[/INST] This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they... |
<s> [INST] What are the treatments for purine nucleoside phosphorylase deficiency ?[/INST] These resources address the diagnosis or management of purine nucleoside phosphorylase deficiency: - Baby's First Test: Severe Combined Immunodeficiency - Genetic Testing Registry: Purine-nucleoside phosphorylase deficiency - ... |
<s> [INST] What is (are) Cushing disease ?[/INST] Cushing disease is caused by elevated levels of a hormone called cortisol, which leads to a wide variety of signs and symptoms. This condition usually occurs in adults between the ages of 20 and 50; however, children may also be affected. The first sign of this conditio... |
<s> [INST] How many people are affected by Cushing disease ?[/INST] Cushing disease is estimated to occur in 10 to 15 per million people worldwide. For reasons that are unclear, Cushing disease affects females more often than males.</s> |
<s> [INST] What are the genetic changes related to Cushing disease ?[/INST] The genetic cause of Cushing disease is often unknown. In only a few instances, mutations in certain genes have been found to lead to Cushing disease. These genetic changes are called somatic mutations. They are acquired during a person's lifet... |
<s> [INST] Is Cushing disease inherited ?[/INST] Most cases of Cushing disease are sporadic, which means they occur in people with no history of the disorder in their family. Rarely, the condition has been reported to run in families; however, it does not have a clear pattern of inheritance. The various syndromes that... |
<s> [INST] What are the treatments for Cushing disease ?[/INST] These resources address the diagnosis or management of Cushing disease: - Genetic Testing Registry: Pituitary dependent hypercortisolism - MedlinePlus Encyclopedia: Cortisol Level - MedlinePlus Encyclopedia: Cushing Disease - The Endocrine Society's Cl... |
<s> [INST] What is (are) pseudoxanthoma elasticum ?[/INST] Pseudoxanthoma elasticum (PXE) is a progressive disorder that is characterized by the accumulation of deposits of calcium and other minerals (mineralization) in elastic fibers. Elastic fibers are a component of connective tissue, which provides strength and fle... |
<s> [INST] How many people are affected by pseudoxanthoma elasticum ?[/INST] PXE affects approximately 1 in 50,000 people worldwide. For reasons that are unclear, this disorder is diagnosed twice as frequently in females as in males.</s> |
<s> [INST] What are the genetic changes related to pseudoxanthoma elasticum ?[/INST] Mutations in the ABCC6 gene cause PXE. This gene provides instructions for making a protein called MRP6 (also known as the ABCC6 protein). This protein is found primarily in cells of the liver and kidneys, with small amounts in other t... |
<s> [INST] Is pseudoxanthoma elasticum inherited ?[/INST] PXE is inherited in an autosomal recessive manner, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and ... |
<s> [INST] What are the treatments for pseudoxanthoma elasticum ?[/INST] These resources address the diagnosis or management of pseudoxanthoma elasticum: - Gene Review: Gene Review: Pseudoxanthoma Elasticum - Genetic Testing Registry: Pseudoxanthoma elasticum These resources from MedlinePlus offer information about... |
<s> [INST] What is (are) beta-mannosidosis ?[/INST] Beta-mannosidosis is a rare inherited disorder affecting the way certain sugar molecules are processed in the body. Signs and symptoms of beta-mannosidosis vary widely in severity, and the age of onset ranges between infancy and adolescence. Almost all individuals wi... |
<s> [INST] How many people are affected by beta-mannosidosis ?[/INST] Beta-mannosidosis is believed to be a very rare disorder. Approximately 20 affected individuals have been reported worldwide. It is difficult to determine the specific incidence of beta-mannosidosis, because people with mild or non-specific symptoms ... |
<s> [INST] What are the genetic changes related to beta-mannosidosis ?[/INST] Mutations in the MANBA gene cause beta-mannosidosis. The MANBA gene provides instructions for making the enzyme beta-mannosidase. This enzyme works in the lysosomes, which are compartments that digest and recycle materials in the cell. Withi... |
<s> [INST] Is beta-mannosidosis inherited ?[/INST] This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show si... |
<s> [INST] What are the treatments for beta-mannosidosis ?[/INST] These resources address the diagnosis or management of beta-mannosidosis: - Genetic Testing Registry: Beta-D-mannosidosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic... |
<s> [INST] What is (are) spondylocostal dysostosis ?[/INST] Spondylocostal dysostosis is a group of conditions characterized by abnormal development of bones in the spine and ribs. The bones of the spine (vertebrae) are misshapen and abnormally joined together (fused). Many people with this condition have abnormal side... |
<s> [INST] How many people are affected by spondylocostal dysostosis ?[/INST] Spondylocostal dysostosis is a rare condition, although its exact prevalence is unknown.</s> |
<s> [INST] What are the genetic changes related to spondylocostal dysostosis ?[/INST] Mutations in at least four genes are known to cause spondylocostal dysostosis: Mutations in the DLL3 gene cause spondylocostal dysostosis type 1; mutations in the MESP2 gene cause spondylocostal dysostosis type 2; mutations in the LFN... |
<s> [INST] Is spondylocostal dysostosis inherited ?[/INST] Spondylocostal dysostosis can have different inheritance patterns. Types 1, 2, 3, and 4 are inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive co... |
<s> [INST] What are the treatments for spondylocostal dysostosis ?[/INST] These resources address the diagnosis or management of spondylocostal dysostosis: - Gene Review: Gene Review: Spondylocostal Dysostosis, Autosomal Recessive - Genetic Testing Registry: Jarcho-Levin syndrome - Genetic Testing Registry: Spondylo... |
<s> [INST] What is (are) biotinidase deficiency ?[/INST] Biotinidase deficiency is an inherited disorder in which the body is unable to recycle the vitamin biotin. If this condition is not recognized and treated, its signs and symptoms typically appear within the first few months of life, although it can also become ap... |
<s> [INST] How many people are affected by biotinidase deficiency ?[/INST] Profound or partial biotinidase deficiency occurs in approximately 1 in 60,000 newborns</s> |
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